NLRP3 Q703K and TNFRSF1A R92Q mutations in a patient with auto inflammatory disease

Mühlenen, I. Von; Gabay, Cem; Finckh, Axel; Kuemmerle‐Deschner, J. B.

doi:10.1186/1546-0096-13-s1-p47

Cited by 4 publications

(4 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is known to be highly prevalent in the eastern Mediterranean region. However, with advances in genetic screening and migration, the diagnosis of FMF patients has markedly increased across all countries [ 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 ]. AIDs are often severe conditions that require specialized care but are not readily recognized.…”

Section: Discussionmentioning

confidence: 99%

Patient Experiences and Challenges in the Management of Autoinflammatory Diseases—Data from the International FMF & AID Global Association Survey

Rech,

Schett,

Tufan

et al. 2024

JCM

View full text Add to dashboard Cite

Background: Autoinflammatory diseases (AIDs) are rare, mostly genetic diseases that affect the innate immune system and are associated with inflammatory symptoms. Both paediatric and adult patients face daily challenges related to their disease, diagnosis and subsequent treatment. For this reason, a survey was developed in collaboration between the FMF & AID Global Association and the Erlangen Center for Periodic Systemic Autoinflammatory Diseases. Methods: A t. The aim of the survey was to collect the personal assessment of affected patients with regard to their current status in terms of diagnostic timeframes, the interpretation of genetic tests, the number of misdiagnoses, and pain and fatigue despite treatment. Results: In total, data from 1043 AID patients (829 adults and 214 children/adolescents) from 52 countries were collected and analyzed. Familial Mediterranean fever (FMF) (521/50%) and Behçet’s disease (311/30%) were the most frequently reported diseases. The average time to diagnosis was 3 years for children/adolescents and 14 years for adults. Prior to the diagnosis of autoinflammatory disease, patients received several misdiagnoses, including psychosomatic disorders. he vast majority of patients reported that genetic testing was available (92%), but only 69% were tested. A total of 217 patients reported that no increase in acute-phase reactants was detected during their disease episodes. The intensity of pain and fatigue was measured in AID patients and found to be high. A total of 88% of respondents received treatment again, while 8% reported no treatment. Conclusions: AID patients, particularly adults, suffer from significant delays in diagnosis, misdiagnosis, and a variety of symptoms, including pain and fatigue. Based on the results presented, raising awareness of these diseases in the wider medical community is crucial to improving patient care and, therefore, the likely quality of life.

show abstract

Section: Discussionmentioning

confidence: 99%

Patient Experiences and Challenges in the Management of Autoinflammatory Diseases—Data from the International FMF & AID Global Association Survey

Rech,

Schett,

Tufan

et al. 2024

JCM

View full text Add to dashboard Cite

show abstract

“…При выявлении типичных высокопенетрантных мутаций в сочетании с клинической картиной диаг-ностика проста. Гораздо более сложным процессом является интерпретация выявленных низкопенетрантных мутаций или полиморфизмов у пациентов, имеющих полный или неполный симптомокомплекс болезни, например таких, как Q703K в гене NLRP3 или R92Q и P46L в гене TNFRSF1A, которые выявляются у здоровых людей [5,23,[29][30][31][32]. От типа мутации зависят также особенности клинической картины, в первую очередь у взрослых.…”

Section: основы диагностики авзunclassified

“…Пациентка М., 31 П е р е д о в а я В нашей группе 22 пациентам (из них 7 -взрослые) назначен канакинумаб, который они продолжают получать в течение 1-5 лет с отчетливой положительной динамикой у большинства из них. Примером длительного эффективного применения ингибитора ИЛ1 канакинумаба может служить история болезни двух членов одной семьи (матери и дочери), страдающих CAPS (MWS) [39].…”

Section: лечение моногенных ау товоспалительных заболеванийunclassified

Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Салугина¹,

Федоров²,

Agafonova³

2019

Naučno-praktičeskaâ revmatologiâ

View full text Add to dashboard Cite

The article presents information on the current state of the problem of autoinflammatory diseases (AID) in rheumatology, reflects the clinical and demographic, laboratory and molecular genetic characteristics of the main monogenic AID (mAID), the most common in real clinical practice. Approaches to the diagnosis and differential diagnosis of these conditions are presented. The variants of classification and diagnostic criteria of the most studied mAID are discussed. The principles of treatment with an emphasis on the use of targeted therapy with interleukin 1 (IL1) inhibitors are shown. The clinical examples demonstrate the variants of late diagnosis of the mAID in adult patients with the disease onset in childhood. Different variants of multi-organ damage are considered. Effectiveness of therapy with IL1β inhibitor kanakinumab is demonstrated. Even in such cases it provided the possibility of significant symptoms regression and restoration of a satisfactory quality of life.

show abstract

“…Известно, что среди 138 вариантов мутаций гена NLRP3 только 110 считаются ассоциированными с CAPS, а 28 являются непатогенными и/или неуточненной значимости. К ним относится Q705K -низкопенетрантная мутация, или полиморфизм, которая выявляется у 3-6,5% здоровых лиц [3,[30][31][32][33].…”

Section: п о л и м о р ф и з м ы в ы я в л е н н ы е у п а ц и е н unclassified

Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis

Салугина¹,

Kamenets²,

Федоров³

et al. 2017

RJTAO

View full text Add to dashboard Cite

Аутовоспалительные заболевания (АВЗ) интенсивно изучаются. Большое значение для диагностики АВЗ имеет молекуляр-но-генетическое тестирование пациентов, поскольку основой развития АВЗ являются патологические мутации, обуслов-ливающие нарушения в системе врожденного (антиген-неспецифического) иммунитета и развитие воспаления. Это каса-ется и пациентов с системным ювенильным артритом (СЮА (М -9,0 лет [5; 15]), длительность заболевания -от 2 мес до 54 лет (М -3,0 года [1,0; 8,5] Результаты. У 43 (23,4%) обследованных выявлены 15 вариантов патогенных мутаций в изучаемых генах: у 31 (16,8%) больно-го -в NLRP3, у 10 (5,4%) -в TNFRSF1A (в гетерозиготном состоянии) и у 2 (1,1%) -в MVK (в компаунд-гетерозиготном состоянии). В группе АВЗ мутации обнаружены у 31 (26,5%) пациента: у 24 (20,5%) -в NLRP3, у 1 (0,9%) -в MVK, у 6 (5,1%) -в TNFRSF1A. В группе CЮА мутации имелись у 12 (17,9%) больных: у 7 (10,4%) -в NLRP3, у 1 (1,5%) -в MVK и у 4 (5,9%) -в TNFRSF1A. Наиболее частыми мутациями в гене NLRP3 были миссенс-замена c. 1049C>T (p.T350M), выявленная у 7 (25,9%) пациентов, а также мутация низкой пенетрантности с. 2113C>A (р.Q705K), обнаруженная у 13 (28,3%) пациентов. В резуль-тате обследования были установлены генетические диагнозы: CAPS -у 19 (10,3%) пациентов, TRAPS -у 9 (4,9%), HIDS -у 2 (1,1%

show abstract

NLRP3 Q703K and TNFRSF1A R92Q mutations in a patient with auto inflammatory disease

Cited by 4 publications

References 1 publication

Patient Experiences and Challenges in the Management of Autoinflammatory Diseases—Data from the International FMF & AID Global Association Survey

Patient Experiences and Challenges in the Management of Autoinflammatory Diseases—Data from the International FMF & AID Global Association Survey

Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis

Contact Info

Product

Resources

About